Sturge–Weber syndrome

Sturge–Weber syndrome

CT scan of Sturge-Weber syndrome
Classification and external resources
ICD-10 Q85.8
ICD-9 759.6
OMIM 185300
DiseasesDB 12572
MedlinePlus 001426
eMedicine neuro/356
MeSH D013341

Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal angioma (cerebral malformations and tumors). It is characterized by abnormal blood vessels on the brain surface. Normally, only one side of the brain is affected.

Sturge-Weber is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development. Unlike other neurocutaneous disorders (phakomatoses), Sturge-Weber occurs sporadically (i.e., does not have a hereditary etiology). It is caused by a somatic activating mutation occurring in the GNAQ gene.[1] Radiological findings will show tram track calcifications on CT, bilaterally.[2]

Signs and symptoms

Sturge–Weber syndrome is usually manifested at birth by a port-wine stain on the forehead and upper eyelid of one side of the face, or the whole face. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the ophthalmic branch of the trigeminal nerve, just under the surface of the face. There is also malformation of blood vessels in the pia mater overlying the brain on the same side of the head as the birthmark. This causes calcification of tissue and loss of nerve cells in the cerebral cortex. Neurological symptoms include seizures that begin in infancy and may worsen with age. Convulsions usually happen on the side of the body opposite the birthmark which vary in severity. There may also be muscle weakness on the side of the body opposite the birthmark. Some children will have developmental delays and cognitive delays; about 50% will have glaucoma (optic neuropathy often associated with increased intraocular pressure), which can be present at birth or develop later. Increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos). Sturge–Weber syndrome rarely affects other body organs.

Imaging findings

CT and MRI are most often used to identify intracranial abnormalities. The haemangioma present on the surface of the brain is in the vast majority of cases on the same side as the birth mark and gradually results in calcification of the underlying brain and atrophy of the affected region [3]

Treatment

Treatment for Sturge–Weber syndrome is symptomatic. Laser treatment may be used to lighten or remove the birthmark. Anticonvulsant medications may be used to control seizures. Doctors recommend early monitoring for glaucoma, and surgery may be performed on more serious cases. When one side of the brain is affected and anticonvulsants prove ineffective, the standard treatment is neurosurgery to remove or disconnect the affected part of the brain (hemispherectomy). Physical therapy should be considered for infants and children with muscle weakness. Educational therapy is often prescribed for those with mental retardation or developmental delays, but there is no complete treatment for the delays. Brain surgery involving removing the portion of the brain that is affected by the disorder can be successful in controlling the seizures so that the patient has only a few seizures that are much less intense than pre-surgery. Surgeons may also opt to "switch-off" the affected side of the brain.[4]

Latanoprost (Xalatan), a prostaglandin, may significantly reduce IOP (intraocular pressure) in patients with glaucoma associated with Sturge–Weber syndrome. Latanoprost is commercially formulated as an aqueous solution in a concentration of 0.005% preserved with 0.02% benzalkonium chloride (BAC). The recommended dosage of latanoprost is one drop daily in the evening, which permits better diurnal IOP control than does morning instillation. Its effect is independent of race, gender or age, and it has few to no side effects. Contraindications include a history of CME, epiretinal membrane formation, vitreous loss during cataract surgery, history of macular edema associated with branch retinal vein occlusion, history of anterior uveitis, and diabetes mellitus. It is also wise to advise patients that unilateral treatment can result in heterochromia or hypertrichosis that may become cosmetically objectionable.

Prognosis

Although it is possible for the birthmark and atrophy in the cerebral cortex to be present without symptoms, most infants will develop convulsive seizures during their first year of life. There is a greater likelihood of intellectual impairment when seizures start before the age of 2 and are resistant to treatment.

Eponym

It is named for William Allen Sturge and Frederick Parkes Weber.[5][6][7]

Foundations and support groups

The Sturge-Weber Foundation's (The SWF) international mission is to improve the quality of life and care for people with Sturge–Weber syndrome and associated Port Wine Birthmark conditions. It supports affected individuals and their families with education, advocacy, and research to promote effective management and awareness. The SWF was founded by Kirk and Karen Ball, who began searching for answers after their daughter was diagnosed with Sturge-Weber Syndrome at birth. The SWF was incorporated in the USA in 1987 as an International 501(c)(3) non-profit organization. In 1992, the mission was expanded to include individuals with capillary vascular birthmarks, Klippel Trenaunay (KT) and Port Wine Birthmarks. More information regarding the Sturge-Weber Foundation or Sturge-Weber Syndrome is available on their website.

The Hemispherectomy Foundation was formed in 2008 to assist families with children who have Sturge-Weber Syndrome and other conditions that require hemispherectomy.[8] The Brain Recovery Project was formed in 2011 to fund research and establish rehabilitation protocols to help children who have had hemispherectomy surgery reach their full potential.

Sturge Weber UK (SWUK), formerly Sturge-Weber Foundation UK, is a volunteer run registered charity formed in 1990. The charity exists to support those affected by Sturge Weber syndrome, promote research into the condition and raise awareness of the condition amongst both public and professionals. The charity was instrumental in setting up a specialist Sturge Weber clinic at Great Ormond Street Hospital. http://www.gosh.nhs.uk/medical-conditions/clinical-specialties/neurodisability-information-for-parents-and-visitors/clinics-and-services/sturge-weber-clinic/ Sturge Weber UK has created an annual Sturge Weber Awareness Day to coincide with William Allen Sturge's birth date on November 1st. The Sturge Weber Awareness Day is a collaboration with international Sturge Weber support groups to raise public and professional awareness of Sturge Weber syndrome around the world. For further information go to www.sturgeweber.org.uk

References

  1. ↑ Shirley, Matthew D.; Tang, Hao; Gallione, Carol J.; Baugher, Joseph D.; Frelin, Laurence P.; Cohen, Bernard; North, Paula E.; Marchuk, Douglas A.; Comi, Anne M.; Pevsner, Jonathan (8 May 2013). "Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in". New England Journal of Medicine 368 (21): 1971–9. doi:10.1056/NEJMoa1213507. PMID 23656586. Retrieved 8 May 2013.
  2. ↑ Zaki, Syed Ahmed; Vijay Lad (July 2011). "Sturge-Weber syndrome with bilateral facial nevus and early cerebral calcification". Journal of Pediatric Neurosciences 6 (2). doi:10.4103/1817-1745.92825. PMID 3296402.
  3. ↑ "Sturge-Weber syndrome: Radiopaedia.org".
  4. ↑ "Norfolk girl recovers after half of brain 'switched off'". BBC News. 2011-05-20.
  5. ↑ synd/1764 at Who Named It?
  6. ↑ Sturge WA (1879). "A case of partial epilepsy, apparently due to a lesion of one of the vasomotor centres of the brain". Transactions of the Clinical Society of London 12: 162.
  7. ↑ Weber FP (1922). "Right-sided hemi-hypertrophy resulting from right-sided congenital spastic hemiplegia, with a morbid condition of the left side of the brain, revealed by radiograms". Journal of Neurology and Psychopathology (London) 3: 134–9.
  8. ↑ "The Community News". Retrieved 2009-02-25.

External links

Pictures